"Baylor Genetics"[submitter] AND "TELO2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033802	NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp)	TELO2 (R377W)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder +2 more	GUncertain significance
Select item 1033803	NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)	TELO2 (T461M)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder +1 more	GUncertain significance
Select item 1033804	NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu)	TELO2 (D492E)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder	GUncertain significance
Select item 2442038	NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)	TELO2 (R668W)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder	GUncertain significance
Select item 1029577	NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln)	TELO2 (R668Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030533	NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr)	TELO2 (A817T)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 625674	GRCh37/hg19 16p13.3(chr16:1557663-1561126)	IFT140, TELO2	Copy number loss	Saldino-Mainzer syndrome	GPathogenic